From Known to New Genes in Dyslipidemia

Genetical Characterization of Patients Presenting With Dyslipidemia

The mechanism of the majority of the dyslipidemia is multifactorial at the molecular level and remains elusive in more than 50% of the patients in many clinical conditions. Next generation sequencing, a booming strategy, improves the molecular diagnosis efficiency in both monogenic and polygenic dyslipidemia.

In order to decipher the mechanisms involved in the occurrence of dyslipidemia, in addition to the exploration of known candidate genes and Single Nucleotide Polymorphisms (SNP) involved in polygenic modulation, new genes involved in the regulation of lipoprotein metabolism or associated with lipids concentrations need to be sequenced in large groups of dyslipidemic patients.

The goal of this project is to gain new insight into genotype/phenotype correlation.

Inclusion Criteria:

• patients with a family documented history of primary hypercholesterolemia, hypertriglyceridemia, hypobetalipoproteinemia, combined hypolipidemia and combined hyperlipidemia according to the European Atherosclerosis Society and/or published data.
• patients with major secondary dyslipidemia.

Exclusion Criteria:

• inability to provide written informed consent
• lack of legal representative